Huntington's Chorea

These images are from an 70 year old woman who has a clinical diagnosis of
Huntington's disease. She presented at 66 years of age with an eight year history of involuntary movements. Brief muscle twiches developed shortly after a fall which resulted in a fracture of her left arm. The movement did not interfere with her daily activities. She retired from her job as an executive secretary at the age of 62. She was reportedly making some errors at work, though cognitive diffuculty was not a salient feature when she was first examined. She has a mixed drink in the evening, and has mild B12 deficiency, compensated on oral supplements.

The patient's mother died at age 52 from heart disease, and father at age 70 from cancer. Neither had a history of a neurologic or psychiatric disorder. A brother, one of six siblings, died in a nursing home at age 70. There was no autopsy, but review of clinical records indicates that he had a behavioral disturbance characterized by dementia and motor restlessness.

Initial neurologic exam was notable for generalized choreic movements involving facial as well as limb muscles. Prominent head nodding was described. Motor impersistance was noted, particularly for tongue protrusion. On the most recent examination, there was impersistence of lateral gaze, and some saccadic intrusions as well. Involuntary movements were prominent during gait. Tendon reflexes were 2+ and equal sith downgoing toes. There was some difficulty with serial subtractions, and thinking was illogical and tangential at times.

CT and MR were normal at initial evaluation. Neuropsychological testing revealed some difficulty with picture completion tasks, but the WAIS-R was normal. There were attentional deficits and difficulty with tests of executive function, particularly manual sequencing effort and focusing attention. There was some emotional lability and impulsiveness during the testing.

Over the past several years, she has been maintained on a phenothiazine, which helps with the involuntary movements. Balence is adequate and she has had no other falls. She lives alone and remains fully independent, being active in alumni affairs for her college. Family reports that she may be more withdrawn than in past years. She declined genetic testing for HD, principally out of concern fora relative who might have difficulty with employment or insurance. She is unmarried and has no children.